“MARNIE” The ALS / Lyme Conundrum

by Ginger Savely, RN, FNP-C

The droning hum of cicadas provides the sound track for a hazy, humid Virginia day. A handsome middle-aged woman, dressed in well-worn 18th century peasant attire, stirs a hefty iron cauldron of beans over an open fire. As she waves away the hovering flies, she smiles, satisfied with the aroma of her simple concoction. It is amazing what a little salt pork can do for a pot of beans! She pushes back the errant strands of hair that are pasted to her perspiring forehead and then slaps her neck in response to the stinging bite of a large mosquito.

She settles back down to her knitting, content that the troops at her Yorktown encampment will take pleasure in their midday meal, one of the few bright spots in their daily lives of danger, drudgery and disease. Lamar is her name, but those close to her know her as Marnie. She is well-loved by the soldiers, who see her as a surrogate mother and a trusted friend. Marnie enjoys her life of service – part-time cook, seamstress, nurse.

The previous scene did not actually occur in the late 1700s but rather in the year 2000. The Yorktown revolutionary war battlefield encampment is one of the few historic landmarks in the United States where workers actually “live” the times, occupying their days exactly as they would have over two centuries earlier. Marnie and the soldiers were state employees performing their daily reenactment of life in the 18th century Yorktown army encampment. Curious tourists would wander about, intrigued by the extemporaneous theatrical production.

In rain and snow, in sweltering summers or freezing winters, Marnie and her co-workers spent their days in the grassy open fields, enduring flea, tick and mosquito bites and the unclean conditions of the times they sought to replicate.

Marnie, who loved the simple things in life, was well-suited to this kind of work. In fact, the job was somewhat of a dream-come-true for her: she was strong, healthy, and a “low maintenance” kind of woman who also adored domestic crafts. She had obtained a masters degree in textile design in San Miguel de Allende, Mexico and was skilled at batik, weaving, macramé, tie-dye, crocheting, embroidery, sewing and knitting. She also loved to cook and do all other manner of crafts.

Appearing much younger than her 61 years, Marnie approached life with a youthful exuberance. She had a beautiful and kind face, a radiant smile, and a welcoming manner. She looked forward to putting on her white ruffled cap, long full skirt and apron and going to work each day. Makeup and jewelry were out of the question, as she had to be perfectly in tune with her place in history. Since assuming the position of “historical interpreter” some 18 years earlier, she had fallen in love with her work and had never missed even one day due to illness.

Despite the modest pay and unforgiving working conditions, Marnie planned to stay on for the rest of her working days, with retirement being the furthest thing from her mind. Marnie had the kind of sweet and unassuming temperament that no one could dislike. Her fellow workers were protective of her trusting nature and were concerned when they noticed their normally vibrant and energetic co-worker starting to move slowly, tire easily, and require assistance to lift even the lightest tools of the trade. Never one to complain or to worry about her health, Marnie ignored the nagging signs and symptoms that something was wrong. She continued to retain her good humor and appear undaunted, even when her doctor couldn’t seem to pinpoint the cause of her sudden decline.

Her weakness worsened to the point where even turning the key to the ignition of her car required both hands and all the strength she could muster. Finally, after a visit to a neurologist, Marnie came home with news that stunned her family, co-workers and friends. The neurologist had told her that there was a strong chance she was developing Amyotrophic Lateral Sclerosis (ALS), also called Lou Gehrig’s disease for the famous baseball player who died from it. ALS is a relentless neurologic disease that affects the nerve cells (neurons) responsible for controlling voluntary movement. It gradually strips its victims of muscular functions, ultimately dooming them to life with a ventilator and feeding tube, unable to speak, the body paralyzed but the mind completely alert.

As many as 30,000 Americans have ALS, and an estimated 5,000 people of all races and ethnic backgrounds are diagnosed with the disease each year in the United States. ALS most commonly strikes people between 40 and 60 years of age, and men are affected almost twice as often as women. There is no known cure and generally life expectancy is three to five years.

In 90 to 95 percent of ALS cases the cause is unclear, with the remainder of cases being due to a genetic abnormality. It has been noted that a high percentage of those diagnosed with ALS had outdoor jobs, spent a good deal of time outdoors, or participated in outdoor athletics. There is also a higher incidence of the disease in military personnel previously deployed in overseas missions.

The only treatment currently available for ALS patients is a drug called riluzole (Rilutek) which at best prolongs life by about two months (but usually only in patients with swallowing difficulties). The medication reduces the levels of the amino acid glutamate, which is thought to be abnormally high, and therefore neurotoxic, in ALS patients.

In order to fit the “official” diagnostic criteria of ALS, the patient needs to have abnormal electromyography (EMG) readings in at least three areas of the body. The EMG measures a muscle’s ability to contract when the motor neuron is stimulated.

Marnie called me to tell me the neurologist’s tentative diagnosis. She said, “He told me that I don’t exactly fit the diagnostic criteria for ALS but he thinks I have some sort of motor neuron disease and there is really nothing he can do for me.”

As a practitioner who specializes in treating patients with Lyme and other tick-borne diseases my diagnostic antennae go up when I hear words like these. Frequently, patients with neurologic symptoms that don’t quite fit a known diagnosis are misdiagnosed victims of at least one tick-borne infection. Marnie certainly had known her share of ticks. During her 18 years of working in the fields of Yorktown, she had pulled dozens of the blood-sucking creatures from her body. “I’ll mail you an IGeneX Laboratories blood test kit,” I said, “and let’s see what we find out”.

As is often the case in patients with severe or long-standing Lyme disease, Marnie’s Lyme Western Blot test results were technically “negative” but highly suspicious for exposure to Borrelia burgdorferi (the causative agent of Lyme disease). She was, however, positive for Babesia, another tick-borne infection. It was enough evidence for me to recommend treatment. After all, the only other option was to accept the ALS diagnosis and helplessly await certain death. A poll of several of the nation’s Lyme experts convinced me that we should not waste another moment but start her at once on intravenous Rocephin, the antibiotic of choice for those with neurologic Lyme disease.

But Marnie wasn’t convinced that she had Lyme disease. After all, she didn’t have the joint pain, malaise or cognitive disturbances that were characteristic of the illness. The intravenous line sounded so drastic and dangerous. She opted to go on oral antibiotics and I referred her to a Virginia Lyme specialist for treatment.

During the following two years Marnie’s life went into a gradual tailspin: months of oral antibiotic treatment with resultant nausea and loss of appetite; difficulty adapting to the “sick role” considering a previously robust constitution; gradually worsening weakness; drastic weight loss due to muscle wasting; dealing with family panic and frustration about her unwillingness to try IV treatment; having to abandon the arts and crafts she loved due to muscle contractures in her hands; and reluctant retirement from her beloved job.

In September of 2002, the tentative diagnosis changed to a definite one as she ultimately fit the diagnostic criteria for ALS. When she reached the point of needing a wheelchair, she moved in with her daughter, who could keep her company and tend to her physical needs. There, daily doses of her four year old grandson were welcome medicine for Marnie’s spirit. Her beautiful smile never faded, and although each month her condition worsened, she never chose to give up hope.

On September 18, 2003, hurricane Isabel tore through Virginia leaving the state’s picturesque landscape cluttered with scattered branches and large debris. Grand old trees lay uprooted, testimony to the wind’s savage wrath. I was hoping to fly east to visit Marnie during that time, but the inclement weather caused flight cancellations and general chaos for travelers. The first few days after the hurricane were eerily quiet: residents surveyed the damage caused by Isabel’s fury and marveled at the crisp, lovely autumn weather, weather so mild and innocent as to be oblivious to the storm’s recent mayhem. During Isabel’s aftermath, Marnie seemed to exhibit a clarity and tranquility she had not felt for a long time. She commented on feeling better, particularly due to a reprise of the unrelenting nausea that had plagued her for months. The evening of the 21rst Marnie even enjoyed a brownie sundae with the rest of the family. There was still that glimmer of hope.

But the following day she stayed in her reclining chair the entire day and seemed to go in and out of consciousness, her brain reacting to the oxygen deficiency that resulted from her weakened respiratory muscles. It is said that when a brain is oxygen-deprived a morphine-like state is induced. And thus a drowsy euphoria came over Marnie as life’s memories flowed randomly through what remained of her waning consciousness. Her daughter stayed close by all day as she tended to housework, while her son-in-law labored diligently in the yard, clearing the storm’s senseless wreckage. By evening, delirium drifted in with its collage of people and places and Marnie could occasionally be heard calling out in response to a vision in her mind’s eye.

At about 9 pm on September 22, 2003, Marnie took her last breath and calmly slipped away, without anguish, without pain, without suffering. It ended the way she wanted it to – at home, without tubes, needles, ventilators or medical personnel. When I received the call to tell me the news, I could not stop sobbing. Despite the inevitability, I was still stunned by the loss. How was it possible to lose someone so vigorous and virtuous? She should have outlived us all with her stamina and healthy lifestyle. Of course, I was relieved that Marnie’s suffering was over, sparing her the final, most gruesome stage of the disease. But her untimely passing haunts me still. A part of me died when I lost my sister Marnie.

There were so many questions. Which did she have: advanced neurologic Lyme disease or ALS? Or did she have both? Did the Lyme disease cause the ALS? Does everyone with ALS have Lyme disease? Might anyone with untreated Lyme disease stand a chance of developing ALS? Would intravenous antibiotics have given her more time? Is there anything that we could have done that we didn’t do?

These are questions without answers. Meanwhile, hundreds of patients diagnosed with ALS continue to test positive for Lyme disease and seek treatment, in desperate hopes of a cure. A very few lucky ones do get a second chance at life. Dr. David Martz, a hematologist in Colorado Springs, was one of the lucky ones. Wheelchair bound and given a few months to live, his Lyme diagnosis and subsequent intravenous antibiotic treatment gave him his life back.

He now “pays it forward” by specializing in treating these very patients. A kind and righteous man, he has devoted himself to discovering just the right approach to the antibiotic treatment of the patients with advanced neurologic symptoms who come to see him from all over the world. He has had impressive success in treating these difficult and delicate cases. But there is only so much that can be done. Once a nerve has died it typically cannot regenerate. So the goal with these patients is to start treatment as soon as possible, in hopes of halting the progression of motor neuron death. Dr. Martz continually refines the balancing act of treating aggressively enough to cure but gingerly enough to avoid the sharp decline these patients often experience as a reaction to overly ambitious treatment. May he live a long and healthy life and continue his ground-breaking work!

Whenever I interview a new patient with an ALS-like presentation of Lyme disease it is hard for me not to think of my beautiful, brave Marnie. I relive the grieving we all went through as she lost her life, one function at a time. My patients’ losses are my losses; my patients’ triumphs are my triumphs. I keep on - in honor of my sister - waiting for answers and miracles, hoping that someone else’s loved one will not have to be taken before it is time.